POLG

POLG
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3IKM, 4ZTU, 4ZTZ, 5C53, 5C52, 5C51
Identifiers
Aliases	POLG, MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE, polymerase (DNA) gamma, catalytic subunit, DNA polymerase gamma, catalytic subunit, ORF-Y, POLGARF
External IDs	OMIM: 174763; MGI: 1196389; HomoloGene: 2016; GeneCards: POLG; OMA:POLG - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	89,334,861 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	79,116,110 bp
RNA expression pattern
	Top expressed in
	granulocyte; ; tibial nerve; ; transverse colon; ; body of stomach; ; right lobe of thyroid gland; ; body of pancreas; ; spleen; ; apex of heart; ; body of uterus; ; minor salivary glands;
	Top expressed in
	spermatocyte; ; spermatid; ; yolk sac; ; ventricular zone; ; granulocyte; ; dentate gyrus of hippocampal formation granule cell; ; superior frontal gyrus; ; epiblast; ; thymus; ; muscle of thigh;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein binding; transferase activity; 3'-5' exonuclease activity; nucleotidyltransferase activity; chromatin binding; protease binding; DNA binding; DNA-directed DNA polymerase activity;
Cellular component	terminal bouton; gamma DNA polymerase complex; mitochondrial nucleoid; mitochondrion; protein-containing complex;
Biological process	DNA replication; response to gamma radiation; cellular response to glucose stimulus; DNA metabolic process; response to light stimulus; DNA-dependent DNA replication; ageing; response to hyperoxia; base-excision repair, gap-filling; nucleic acid phosphodiester bond hydrolysis; DNA biosynthetic process; mitochondrial DNA replication;
	Sources:Amigo / QuickGO
Orthologs
	5428
	18975
	ENSG00000140521
	ENSMUSG00000039176
	P54098
	P54099
	NM_002693; NM_001126131
	NM_017462; NM_001360095; NM_001360096
	NP_001119603; NP_002684
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

DNA polymerase subunit gamma (POLG or POLG1) is an enzyme that in humans is encoded by the POLG gene.^[5] Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE).^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000140521 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000039176 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Zullo SJ, Butler L, Zahorchak RJ, Macville M, Wilkes C, Merril CR (Mar 1998). "Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24→q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs)". Cytogenetics and Cell Genetics. 78 (3–4): 281–4. doi:10.1159/000134672. PMID 9465903.
^ Cite error: The named reference :1 was invoked but never defined (see the help page).

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000140521 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000039176 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9465903-5] Zullo SJ, Butler L, Zahorchak RJ, Macville M, Wilkes C, Merril CR (Mar 1998). "Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24→q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs)". Cytogenetics and Cell Genetics. 78 (3–4): 281–4. doi:10.1159/000134672. PMID 9465903.

[:1-6] Cite error: The named reference :1 was invoked but never defined (see the help page).

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